Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is characterized by progressive muscle weakness, and a noticeable loss of muscle tissue.

What are the risk factors for Duchenne muscular dystrophy?

Inherited or spontaneously mutated genes.

What causes Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, meaning that it affects boys and is inherited from the mother. Two-thirds of cases have a positive family history, whereas one third have no family history and are due to spontaneous mutations.

Duchenne muscular dystrophy is caused by a loss-of-function DNA mutation leading to defects in normal dystrophin protein that is essential to muscle stability and growth.

What are the symptoms for Duchenne muscular dystrophy?

Symptoms include progressive muscle weakness.

How is Duchenne muscular dystrophy diagnosed?

Clinical examination for signs of muscle weakness and coordination problems

Muscle biopsy to examine the structure of the muscle

Electromyography test to test muscle and/or nerve function

Blood DNA testing for a definitive diagnosis

Treatment Programs

Massachusetts General Hospital understands that a variety of factors influence patients' health care decisions. That's just one reason why we're dedicated to ensuring patients understand their diagnosis and treatment options. Because a single option might not serve all patients, we offer a wide range of coordinated treatments and related services across the hospital. Patients should consult with their primary care doctor or other qualified health care provider for medical advice and diagnosis information.

Select a treatment program for more information:

Treatment for Duchenne muscular dystrophy

Currently there are no specific FDA-approved treatments for any form of muscular dystrophy, and to date corticosteroid is the only medication that has demonstrated any benefit in altering the progression of the disease.

Since the heart and breathing muscles are also affected, there is a need for close monitoring and treatments from cardiology and pulmonary specialists.

A physician may also recommend different types of therapy in addition to medication to help treat the symptoms of the disease. Therapies may include physical therapy, mobility specialists, orthotists and orthopedic consults for support of overall function, other medical specialists including GI, endocrinology, nutrition, and psychology. Family, parent, and sibling support are also invaluable.